Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Abstract

Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This article explores a set of CSER results disclosure cases to expand the evidence base on experiences returning genomic results. Case details were collected using a structured set of questions. We identified common themes in the case set, and assessed challenges and strategies in achieving six relevant results disclosure objectives. CSER-affiliated patient/community stakeholder impressions of the findings were solicited via video conference calls. Seventeen cases across six CSER projects were included. Case themes sorted into four categories: (1) factors influencing participant understanding, (2) participant emotional response, (3) disease burden, and (4) logistical challenges. Challenges meeting results disclosure objectives included a lack of dialogue, health literacy level, unexpected findings, and complex concepts. Strategies were consistent with traditional genetic counseling practice, but also highlighted approaches being evaluated in CSER projects. Patient/community stakeholders supported the identified themes and provided additional suggestions to improve patient understanding and engagement. These experiences add valuable insights into adapting genomic results disclosure practices to best serve all patient populations.

Researcher Views on Multi-omics Return of Results to Research Participants: Insights from the Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study

“…Other large precision medicine projects such as MyCode at Geisinger Health in collaboration with Regeneron Genetics Center, integrate the return of results process for pathogenic and likely pathogenic variants from a set list of genes found in the research setting into study participants current clinical care by placing the information into their electronic medical record and informing participant's clinical care team of the research results (40,46,47). Publications detailing the outcomes of these efforts (39)(40)(41)48), among others, will undoubtedly help to inform best practices in the future. These works on genomics return of results will also hopefully encourage discussions and engagement from all relevant stakeholders to develop return of results consensus guidelines for other omics in the future.…”

“…While feasibility of return is an important question for multi-omics return of results currently, multiple large precision medicine studies have plans or have begun returning medically actionable genetic sequencing results to study participants (39)(40)(41)(42)(43)(44). A well known example is the National Institute of Health (NIH)'s All of Us Research Project , which aims to genetically sequence one million people (42).…”

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families

“…For these reasons, we developed three novel measures of understanding to gain a more thorough and nuanced evaluation of parents' understanding of the GT results. We demonstrated that GUÍA specifically improved objective understanding of uncertain results, typically the most challenging to communicate due to the complex nature of the results, limited available data on the implications of the finding, and ambiguity surrounding the clinical significance and subsequent steps in medical management (20,31,32). We also note a significant impact on understanding in parents of children with IDD, a multifactorial disorder where the underlying etiology can be difficult to determine, suggesting GUÍA may have increased parents' understanding of results in the context of heightened clinical complexity.…”

“…Far fewer applications are focused on communicating GT results (post-test counseling) (18). Communicating GT results to patients can be challenging due to the complexity of the results, the degree of technical language used in clinical GT reports, the potential for misinterpretation, and the range of result types from benign to uncertain to pathogenic (19,20). Digital tools could potentially improve the communication of complex genetic results with features such as digital post-test educational modules, personalization, and visualization of results and medical recommendations.…”

Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium

“…Stakeholder input highlighted practical strategies the team had not considered, such as planning additional appointments to break-up discussion of complex topics and management. 25 Feedback groups Feedback groups are small groups of stakeholders who represent specific experience or demographic characteristics for targeted feedback regarding a research project idea, recruitment plans or challenges, data collection methods, relevance and format of an intervention, and feasibility of the proposed research workflows. Guided by a facilitator and often using predetermined questions based on projectspecific agendas, researchers can hold multiple feedback groups focused on the same topical agenda and/or different topical agendas at multiple points throughout the study.…”